Variant report

Variant	rs4296072
Chromosome Location	chr12:75760407-75760408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:75760365-75760661	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL2	chr12:75760323-75760670	SK-N-SH	brain:	n/a	n/a
3	BATF	chr12:75760330-75760650	GM12878	blood:	n/a	chr12:75760528-75760539
4	JUN	chr12:75760402-75760653	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GLIPR1L1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1056903	1.00[ASN][1000 genomes]
rs1056905	1.00[ASN][1000 genomes]
rs10732759	1.00[ASN][1000 genomes]
rs10735988	1.00[ASN][1000 genomes]
rs10748278	1.00[GIH][hapmap];0.91[MEX][hapmap]
rs10748281	1.00[ASN][1000 genomes]
rs10785192	1.00[ASN][1000 genomes]
rs1147996	1.00[ASN][1000 genomes]
rs1275473	1.00[ASN][1000 genomes]
rs1275475	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs1275482	1.00[ASN][1000 genomes]
rs1679383	1.00[ASN][1000 genomes]
rs1842320	1.00[ASN][1000 genomes]
rs4462386	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486667	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539373	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882617	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882688	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7294516	0.84[AMR][1000 genomes]
rs7975741	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1054059	chr12:75654631-75776721	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:75754000-75784200	Weak transcription	Right Ventricle	heart
4	chr12:75757200-75783400	Weak transcription	Ovary	ovary
5	chr12:75758200-75760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:75758200-75782600	Weak transcription	Aorta	Aorta
7	chr12:75758600-75760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:75758600-75760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:75758800-75760600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:75758800-75760600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:75759800-75760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:75759800-75760800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:75759800-75760800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:75759800-75761000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:75760000-75760800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:75760000-75760800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:75760000-75760800	Enhancers	NH-A	brain
18	chr12:75760000-75761000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:75760000-75761200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:75760200-75760800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:75760200-75760800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:75760200-75760800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:75760200-75760800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:75760200-75760800	Enhancers	HSMM	muscle
25	chr12:75760200-75760800	Enhancers	HUVEC	blood vessel
26	chr12:75760200-75760800	Enhancers	NHDF-Ad	bronchial
27	chr12:75760200-75760800	Enhancers	NHLF	lung
28	chr12:75760200-75761000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:75760200-75761000	Enhancers	GM12878-XiMat	blood
30	chr12:75760200-75761000	Enhancers	Osteobl	bone
31	chr12:75760200-75761600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr12:75760400-75760600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:75760400-75760600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:75760400-75760800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:75760400-75760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:75760400-75760800	Enhancers	NHEK	skin
37	chr12:75760400-75761000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:75760400-75763400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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